Chen, 2015: Overview of all reported MxMD-ADCY5 patients

Index patient Sex Ethnicity Country of origin AAO AAE Family history Symptoms Initial symptoms Reported mutations
Yes
n.a.
n.a.
0
22
No
-Motor
Dyskinesia
Axial hypotonia
Motor delay
Cerebellar signs
Myoclonus
Chorea
Dysarthria
Facial twitches
Paroxysmal dyskinesia
Show more (+7)
n.a.
Yes
n.a.
n.a.
1
9
No
Axial hypotonia
Gait impairment
-Motor
Motor delay
Dyskinesia
Myoclonus
Delayed gross motor development
Hyperreflexia
Seizures
Dysarthria
Show more (+7)
n.a.
No
C
USA
5
42
Yes
Postural tremor
Dyskinesia
Trigger: Anxiety
Tremor (any or unspecified)
-Motor
Chorea
Show more (+3)
n.a.
Yes
n.a.
n.a.
1
14
No
Dyskinesia
Chorea
Dysarthria
Cognitive impairment
Myoclonus
-Motor
Cerebellar signs
Axial hypotonia
Facial twitches
Hyperreflexia
Show more (+7)
n.a.
Yes
n.a.
n.a.
0
29
No
-Motor
Myoclonus
Dysarthria
Cerebellar signs
Dyskinesia
Axial hypotonia
Show more (+3)
n.a.
No
C
USA
3
71
Yes
Chorea
-Motor
Dyskinesia
Cognitive impairment
Show more (+1)
n.a.
Yes
n.a.
n.a.
n.a.
42
No
Facial twitches
Dyskinesia
Hyperreflexia
Chorea
-Motor
Show more (+2)
n.a.
No
n.a.
n.a.
n.a.
8
Yes
Dystonia, axial
Dystonia, limb
Motor delay
Dyskinesia
Axial hypotonia
Gait impairment
-Motor
Muscular hypotonia
Show more (+5)
n.a.
Yes
n.a.
n.a.
1
68
Yes
Dyskinesia
Chorea
Dystonia, axial
Trigger: Anxiety
Paroxysmal dyskinesia
-Motor
Show more (+3)
n.a.
Yes
n.a.
n.a.
2
13
No
-Motor
Chorea
Cognitive impairment
Dyskinesia
Show more (+1)
n.a.